Multicentric Study on the Diagnostic of Neuromuscular Diseases in Children with High Creatinine Phosphokinase Levels
Background: Neuromuscular diseases (NMDs) are rare, predominantly hereditary, with progressive course disorders. Furthermore, diagnosis can be delayed by years after symptoms emerge, resulting in missed opportunities for modifying disease progression, specific therapeutic approaches, and counseling....
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2024-11-01
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| author | Cláudia Monteiro Cristina Garrido Ângela Pereira Andreia Dias Mariana Costa Catarina Magalhães Manuela Ferreira Miguel Costa Manuela Santos |
| author_facet | Cláudia Monteiro Cristina Garrido Ângela Pereira Andreia Dias Mariana Costa Catarina Magalhães Manuela Ferreira Miguel Costa Manuela Santos |
| author_sort | Cláudia Monteiro |
| collection | DOAJ |
| description | Background: Neuromuscular diseases (NMDs) are rare, predominantly hereditary, with progressive course disorders. Furthermore, diagnosis can be delayed by years after symptoms emerge, resulting in missed opportunities for modifying disease progression, specific therapeutic approaches, and counseling. Some NMDs have high levels of creatine phosphokinase (CK). Thus, its measurement can indicate an NMD associated with muscle involvement. Objectives: We aimed to identify myopathies and muscular dystrophies through elevated CK levels for early detection of these disorders. Methods: A prospective, observational, and analytical study of children and teenagers showing high levels of CK, showing mild symptoms, or who were asymptomatic with elevation of transaminases from all pediatric units in the north of Portugal was performed. All diagnosed patients were referred to our Center for Neuromuscular Diseases. Additionally, CK level confirmation, clinical examination, and investigation were performed according to best-practice clinical guidelines. Results: We found 33 patients from 8/12 pediatric units. A diagnosis with implications for care measures and treatment was performed in half of the patients. A total of 30% presented an NMD diagnosis. Dystrophinopathies represented the largest group (21%). Conclusions: Therefore, NMDs should be considered in children and teenagers with high CK levels, even those with mild symptoms. Screening for CK elevation should be used to promote an earlier diagnosis of many NMDs. |
| format | Article |
| id | doaj-art-7f44914b6dc64b1fa01ee1e9ca2387b4 |
| institution | DOAJ |
| issn | 2227-9067 |
| language | English |
| publishDate | 2024-11-01 |
| publisher | MDPI AG |
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| series | Children |
| spelling | doaj-art-7f44914b6dc64b1fa01ee1e9ca2387b42025-08-20T02:57:12ZengMDPI AGChildren2227-90672024-11-011112146210.3390/children11121462Multicentric Study on the Diagnostic of Neuromuscular Diseases in Children with High Creatinine Phosphokinase LevelsCláudia Monteiro0Cristina Garrido1Ângela Pereira2Andreia Dias3Mariana Costa4Catarina Magalhães5Manuela Ferreira6Miguel Costa7Manuela Santos8Pediatrics Service, Centro Hospitalar Tâmega e Sousa, Avenida do Hospital Padre Américo 210, 4564-007 Guilhufe, PortugalDepartment of Neuropediatrics, Centro Materno-Infantil do Norte, Centro Hospitalar Universitário de Santo António (CHUdSA), Largo da Maternidade de Júlio Dinis 45, 4050-651 Porto, PortugalHospital Braga, R. das Sete Fontes, 4710-243 Braga, PortugalCentro Hospitalar Trás-os-Montes Alto Douro, Avenida da Noruega Lordelo, 5000-508 Vila Real, PortugalHospital de Santa Luzia, Estr. de Santa Luzia, 4900-408 Viana do Castelo, PortugalHospital Senhora da Oliveira, R. dos Cutileiros 114, 4835-044 Creixomil, PortugalUnidade Hospitalar de Bragança, Av. Abade de Baçal SN, 5301-852 Bragança, PortugalCentro Hospitalar de Entre Douro e Vouga, R. Dr. Cândido Pinho 5, 4520-211 Santa Maria da Feira, PortugalDepartment of Neuropediatrics, Centro Materno-Infantil do Norte, Centro Hospitalar Universitário de Santo António (CHUdSA), Largo da Maternidade de Júlio Dinis 45, 4050-651 Porto, PortugalBackground: Neuromuscular diseases (NMDs) are rare, predominantly hereditary, with progressive course disorders. Furthermore, diagnosis can be delayed by years after symptoms emerge, resulting in missed opportunities for modifying disease progression, specific therapeutic approaches, and counseling. Some NMDs have high levels of creatine phosphokinase (CK). Thus, its measurement can indicate an NMD associated with muscle involvement. Objectives: We aimed to identify myopathies and muscular dystrophies through elevated CK levels for early detection of these disorders. Methods: A prospective, observational, and analytical study of children and teenagers showing high levels of CK, showing mild symptoms, or who were asymptomatic with elevation of transaminases from all pediatric units in the north of Portugal was performed. All diagnosed patients were referred to our Center for Neuromuscular Diseases. Additionally, CK level confirmation, clinical examination, and investigation were performed according to best-practice clinical guidelines. Results: We found 33 patients from 8/12 pediatric units. A diagnosis with implications for care measures and treatment was performed in half of the patients. A total of 30% presented an NMD diagnosis. Dystrophinopathies represented the largest group (21%). Conclusions: Therefore, NMDs should be considered in children and teenagers with high CK levels, even those with mild symptoms. Screening for CK elevation should be used to promote an earlier diagnosis of many NMDs.https://www.mdpi.com/2227-9067/11/12/1462neuromuscular diseasescreatine phosphokinase (CK)screeningdystrophinopathies |
| spellingShingle | Cláudia Monteiro Cristina Garrido Ângela Pereira Andreia Dias Mariana Costa Catarina Magalhães Manuela Ferreira Miguel Costa Manuela Santos Multicentric Study on the Diagnostic of Neuromuscular Diseases in Children with High Creatinine Phosphokinase Levels Children neuromuscular diseases creatine phosphokinase (CK) screening dystrophinopathies |
| title | Multicentric Study on the Diagnostic of Neuromuscular Diseases in Children with High Creatinine Phosphokinase Levels |
| title_full | Multicentric Study on the Diagnostic of Neuromuscular Diseases in Children with High Creatinine Phosphokinase Levels |
| title_fullStr | Multicentric Study on the Diagnostic of Neuromuscular Diseases in Children with High Creatinine Phosphokinase Levels |
| title_full_unstemmed | Multicentric Study on the Diagnostic of Neuromuscular Diseases in Children with High Creatinine Phosphokinase Levels |
| title_short | Multicentric Study on the Diagnostic of Neuromuscular Diseases in Children with High Creatinine Phosphokinase Levels |
| title_sort | multicentric study on the diagnostic of neuromuscular diseases in children with high creatinine phosphokinase levels |
| topic | neuromuscular diseases creatine phosphokinase (CK) screening dystrophinopathies |
| url | https://www.mdpi.com/2227-9067/11/12/1462 |
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